Table 2 Disease mutations of human TPRKB.

From: Crystal structure of the human PRPK–TPRKB complex

TPRKB mutation

Disease/tissue/functional effects

Structural effect prediction

L136P

Galloway–Mowat Syndrome9

Deeply buried, anchor helix α6 to the core structure. May affect protein structural integrity.

Y149C

Galloway–Mowat Syndrome9

Deeply buried, hydrophobic core formation, may affect protein structural integrity.

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